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Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia

BACKGROUND: Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross‐link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes. METHODS: Using N...

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Podrobná bibliografie
Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Velmurugan, Karthik Raja, Michalak, Pawel, Kang, Lin, Fonville, Natalie C., Garner, Harold R.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305641/
https://ncbi.nlm.nih.gov/pubmed/30450770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.502
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